Canonical Allele Identifier: CA368187168

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92136316C>G (hg19) ; chr7:g.92507002C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507002C>G , CM000669.2:g.92507002C>G	GRCh38
NC_000007.13:g.92136316C>G , CM000669.1:g.92136316C>G	GRCh37
NC_000007.12:g.91974252C>G	NCBI36
NG_008341.1:g.26530G>C
NG_008341.2:g.26530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1795G>C MANE Select	ENSP00000248633.4:p.Gly599Arg
ENST00000248633.8:c.1795G>C	ENSP00000248633.4:p.Gly599Arg
ENST00000422866.1:c.613G>C
ENST00000428214.5:c.1795G>C	ENSP00000394413.1:p.Gly599Arg
ENST00000438045.5:c.829G>C	ENSP00000410438.1:p.Gly277Arg
ENST00000484913.5:n.1834G>C
ENST00000496420.5:n.822G>C
NM_000466.2:c.1795G>C	NP_000457.1:p.Gly599Arg
NM_001282677.1:c.1795G>C	NP_001269606.1:p.Gly599Arg
NM_001282678.1:c.1171G>C	NP_001269607.1:p.Gly391Arg
XM_005250433.3:c.46G>C	XP_005250490.1:p.Gly16Arg
XR_242246.3:n.1891G>C
XM_017012319.2:c.46G>C	XP_016867808.1:p.Gly16Arg
XR_001744808.2:n.822G>C
XR_242246.5:n.1842G>C
NM_000466.3:c.1795G>C MANE Select	NP_000457.1:p.Gly599Arg
NM_001282677.2:c.1795G>C	NP_001269606.1:p.Gly599Arg
NM_001282678.2:c.1171G>C	NP_001269607.1:p.Gly391Arg